| Mutation ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000283628 |
| Start |
33408688:33408688(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.927+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000283628 |
| Start |
33390332:33390332(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1622G>T |
| AA Mutation |
p.Ter541LeuextTer4(p.*541Lext*4) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> UBP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283628 |
| Start |
33397070:33397070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1246C>T |
| AA Mutation |
p.Arg416Trp(p.R416W) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000283628 |
| Start |
33397124:33397124(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1192T>G |
| AA Mutation |
p.Leu398Val(p.L398V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|